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Protein

Hamartin

Gene

TSC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling.2 Publications

GO - Molecular functioni

  • chaperone binding Source: UniProtKB
  • GTPase regulator activity Source: GO_Central
  • protein N-terminus binding Source: UniProtKB

GO - Biological processi

  • activation of GTPase activity Source: UniProtKB
  • cardiac muscle cell differentiation Source: Ensembl
  • cell cycle arrest Source: Reactome
  • cell-matrix adhesion Source: UniProtKB
  • cell projection organization Source: Ensembl
  • cerebral cortex development Source: Ensembl
  • gene expression Source: Reactome
  • glucose import Source: Ensembl
  • hippocampus development Source: Ensembl
  • insulin receptor signaling pathway Source: Reactome
  • kidney development Source: Ensembl
  • myelination Source: Ensembl
  • negative regulation of cell proliferation Source: UniProtKB
  • negative regulation of cell size Source: Ensembl
  • negative regulation of insulin receptor signaling pathway Source: GO_Central
  • negative regulation of TOR signaling Source: UniProtKB
  • negative regulation of translation Source: UniProtKB
  • neural tube closure Source: Ensembl
  • positive regulation of focal adhesion assembly Source: UniProtKB
  • potassium ion transport Source: Ensembl
  • protein heterooligomerization Source: Ensembl
  • protein stabilization Source: UniProtKB
  • regulation of cell cycle Source: GO_Central
  • regulation of cell-matrix adhesion Source: UniProtKB
  • regulation of phosphoprotein phosphatase activity Source: UniProtKB
  • regulation of protein kinase activity Source: Ensembl
  • regulation of stress fiber assembly Source: UniProtKB
  • regulation of translation Source: UniProtKB
  • response to insulin Source: UniProtKB
  • rRNA export from nucleus Source: UniProtKB
  • synapse organization Source: Ensembl
  • transcription initiation from RNA polymerase II promoter Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_21393. Regulation of Rheb GTPase activity by AMPK.
REACT_355377. TP53 Regulates Metabolic Genes.
REACT_6743. Inhibition of TSC complex formation by PKB.
SignaLinkiQ92574.

Names & Taxonomyi

Protein namesi
Recommended name:
Hamartin
Alternative name(s):
Tuberous sclerosis 1 protein
Gene namesi
Name:TSC1
Synonyms:KIAA0243, TSC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:12362. TSC1.

Subcellular locationi

  • Cytoplasm 1 Publication
  • Membrane 1 Publication; Peripheral membrane protein 1 Publication

  • Note: At steady state found in association with membranes.

GO - Cellular componenti

  • cell cortex Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytoskeleton Source: Ensembl
  • cytosol Source: UniProtKB
  • growth cone Source: Ensembl
  • intracellular membrane-bounded organelle Source: Ensembl
  • lamellipodium Source: UniProtKB
  • membrane Source: UniProtKB
  • plasma membrane Source: HPA
  • protein complex Source: UniProtKB
  • TSC1-TSC2 complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Tuberous sclerosis 1 (TSC1)7 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.

See also OMIM:191100
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511E → D in TSC1; unknown pathological significance.
VAR_009397
Natural varianti61 – 611L → R in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
VAR_070636
Natural varianti72 – 721L → P in TSC1. 1 Publication
VAR_054387
Natural varianti117 – 1171L → P in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling. 2 Publications
VAR_070637
Natural varianti126 – 1261V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070638
Natural varianti128 – 1281Missing in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
VAR_070639
Natural varianti132 – 1321G → D in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
VAR_070640
Natural varianti133 – 1331V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070641
Natural varianti180 – 1801L → P in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
VAR_070643
Natural varianti191 – 1911L → H in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
VAR_009399
Natural varianti198 – 1992NF → I in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling. 1 Publication
VAR_009400
Natural varianti224 – 2241M → R in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
VAR_009401
Natural varianti246 – 2461R → K in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070645
Natural varianti305 – 3051G → R in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070646
Natural varianti305 – 3051G → W in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070647
Natural varianti336 – 3361R → Q in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070648
Natural varianti362 – 3621P → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070649
Natural varianti411 – 4111L → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070650
Natural varianti417 – 4171T → I in TSC1; unknown pathological significance; does not affect interaction with TSC2. 3 Publications
Corresponds to variant rs77464996 [ dbSNP | Ensembl ].
VAR_009403
Natural varianti448 – 4481P → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070651
Natural varianti500 – 5001R → Q in TSC1. 1 Publication
VAR_054391
Natural varianti523 – 5231A → P in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070653
Natural varianti567 – 5671A → V in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070654
Natural varianti586 – 5894CKIP → S in TSC1.
VAR_009405
Natural varianti654 – 6541Q → E in TSC1. 1 Publication
Corresponds to variant rs75820036 [ dbSNP | Ensembl ].
VAR_009407
Natural varianti693 – 6931D → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070655
Natural varianti698 – 6981L → R in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070656
Natural varianti701 – 7011Q → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070657
Natural varianti726 – 7261A → E in TSC1. 1 Publication
VAR_009408
Natural varianti762 – 7621N → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070658
Natural varianti811 – 8111R → G in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070659
Natural varianti883 – 8831A → T in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070660
Natural varianti899 – 8991T → S in TSC1. 1 Publication
VAR_009412
Natural varianti978 – 9781L → V in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070661
Natural varianti1043 – 10431Missing in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070662
Natural varianti1146 – 11461D → Y in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070664
Focal cortical dysplasia of Taylor balloon cell type (FCDBC)1 Publication

The disease may be caused by mutations affecting the gene represented in this entry.

Disease descriptionSubtype of cortical dysplasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development.

See also OMIM:607341
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti732 – 7321H → Y in FCDBC; unknown pathological significance. 4 Publications
Corresponds to variant rs118203657 [ dbSNP | Ensembl ].
VAR_009409

Keywords - Diseasei

Disease mutation, Epilepsy, Tumor suppressor

Organism-specific databases

MIMi191100. phenotype.
607341. phenotype.
Orphaneti269008. Isolated focal cortical dysplasia type IIb.
538. Lymphangioleiomyomatosis.
805. Tuberous sclerosis.
PharmGKBiPA37034.

Polymorphism and mutation databases

BioMutaiTSC1.
DMDMi9297077.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11641164HamartinPRO_0000065651Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei505 – 5051Phosphoserine3 Publications
Modified residuei511 – 5111Phosphoserine1 Publication
Modified residuei598 – 5981Phosphoserine1 Publication
Modified residuei1100 – 11001Phosphoserine1 Publication

Post-translational modificationi

Phosphorylation at Ser-505 does not affect interaction with TSC2.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ92574.
PRIDEiQ92574.

PTM databases

PhosphoSiteiQ92574.

Expressioni

Tissue specificityi

Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.

Gene expression databases

BgeeiQ92574.
CleanExiHS_TSC1.
ExpressionAtlasiQ92574. baseline and differential.
GenevisibleiQ92574. HS.

Organism-specific databases

HPAiCAB011568.
CAB012481.
HPA048549.

Interactioni

Subunit structurei

Interacts with TSC2, leading to stabilize TSC2. In the absence of TSC2, TSC1 self-aggregates. Interacts with DOCK7. Interacts with FBXW5 and TBC1D7.7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
IKBKBO149203EBI-1047085,EBI-81266
MAPK14Q165392EBI-1047085,EBI-73946
NGFRAP1Q009945EBI-1047085,EBI-741753
TSC2P4981510EBI-1047085,EBI-396587

Protein-protein interaction databases

BioGridi113099. 39 interactions.
IntActiQ92574. 40 interactions.
MINTiMINT-1534928.
STRINGi9606.ENSP00000298552.

Structurei

3D structure databases

ProteinModelPortaliQ92574.
SMRiQ92574. Positions 85-263.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili721 – 997277Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1034 – 10374Poly-Gly
Compositional biasi1038 – 10436Poly-Ser

Domaini

The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG68098.
GeneTreeiENSGT00390000014148.
HOGENOMiHOG000232119.
HOVERGENiHBG012559.
InParanoidiQ92574.
KOiK07206.
OMAiEHNAAMK.
OrthoDBiEOG7NKKJH.
PhylomeDBiQ92574.
TreeFamiTF325466.

Family and domain databases

InterProiIPR007483. Hamartin.
[Graphical view]
PANTHERiPTHR15154. PTHR15154. 1 hit.
PfamiPF04388. Hamartin. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q92574-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAQQANVGEL LAMLDSPMLG VRDDVTAVFK ENLNSDRGPM LVNTLVDYYL
60 70 80 90 100
ETSSQPALHI LTTLQEPHDK HLLDRINEYV GKAATRLSIL SLLGHVIRLQ
110 120 130 140 150
PSWKHKLSQA PLLPSLLKCL KMDTDVVVLT TGVLVLITML PMIPQSGKQH
160 170 180 190 200
LLDFFDIFGR LSSWCLKKPG HVAEVYLVHL HASVYALFHR LYGMYPCNFV
210 220 230 240 250
SFLRSHYSMK ENLETFEEVV KPMMEHVRIH PELVTGSKDH ELDPRRWKRL
260 270 280 290 300
ETHDVVIECA KISLDPTEAS YEDGYSVSHQ ISARFPHRSA DVTTSPYADT
310 320 330 340 350
QNSYGCATST PYSTSRLMLL NMPGQLPQTL SSPSTRLITE PPQATLWSPS
360 370 380 390 400
MVCGMTTPPT SPGNVPPDLS HPYSKVFGTT AGGKGTPLGT PATSPPPAPL
410 420 430 440 450
CHSDDYVHIS LPQATVTPPR KEERMDSARP CLHRQHHLLN DRGSEEPPGS
460 470 480 490 500
KGSVTLSDLP GFLGDLASEE DSIEKDKEEA AISRELSEIT TAEAEPVVPR
510 520 530 540 550
GGFDSPFYRD SLPGSQRKTH SAASSSQGAS VNPEPLHSSL DKLGPDTPKQ
560 570 580 590 600
AFTPIDLPCG SADESPAGDR ECQTSLETSI FTPSPCKIPP PTRVGFGSGQ
610 620 630 640 650
PPPYDHLFEV ALPKTAHHFV IRKTEELLKK AKGNTEEDGV PSTSPMEVLD
660 670 680 690 700
RLIQQGADAH SKELNKLPLP SKSVDWTHFG GSPPSDEIRT LRDQLLLLHN
710 720 730 740 750
QLLYERFKRQ QHALRNRRLL RKVIKAAALE EHNAAMKDQL KLQEKDIQMW
760 770 780 790 800
KVSLQKEQAR YNQLQEQRDT MVTKLHSQIR QLQHDREEFY NQSQELQTKL
810 820 830 840 850
EDCRNMIAEL RIELKKANNK VCHTELLLSQ VSQKLSNSES VQQQMEFLNR
860 870 880 890 900
QLLVLGEVNE LYLEQLQNKH SDTTKEVEMM KAAYRKELEK NRSHVLQQTQ
910 920 930 940 950
RLDTSQKRIL ELESHLAKKD HLLLEQKKYL EDVKLQARGQ LQAAESRYEA
960 970 980 990 1000
QKRITQVFEL EILDLYGRLE KDGLLKKLEE EKAEAAEAAE ERLDCCNDGC
1010 1020 1030 1040 1050
SDSMVGHNEE ASGHNGETKT PRPSSARGSS GSRGGGGSSS SSSELSTPEK
1060 1070 1080 1090 1100
PPHQRAGPFS SRWETTMGEA SASIPTTVGS LPSSKSFLGM KARELFRNKS
1110 1120 1130 1140 1150
ESQCDEDGMT SSLSESLKTE LGKDLGVEAK IPLNLDGPHP SPPTPDSVGQ
1160
LHIMDYNETH HEHS
Length:1,164
Mass (Da):129,767
Last modified:November 1, 1998 - v2
Checksum:iEF15509385C7AACC
GO
Isoform 2 (identifier: Q92574-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-120: Missing.

Note: No experimental confirmation available.
Show »
Length:1,113
Mass (Da):124,015
Checksum:i6EA012443870A73C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511E → D in TSC1; unknown pathological significance.
VAR_009397
Natural varianti61 – 611L → R in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
VAR_070636
Natural varianti68 – 681H → R in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2. 1 Publication
VAR_054386
Natural varianti72 – 721L → P in TSC1. 1 Publication
VAR_054387
Natural varianti117 – 1171L → P in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling. 2 Publications
VAR_070637
Natural varianti126 – 1261V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070638
Natural varianti128 – 1281Missing in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
VAR_070639
Natural varianti132 – 1321G → D in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
VAR_070640
Natural varianti133 – 1331V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070641
Natural varianti158 – 1581F → C in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2. 1 Publication
VAR_054388
Natural varianti158 – 1581F → S Found in a patient suspected of having tuberous sclerosis; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
VAR_070642
Natural varianti180 – 1801L → P in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
VAR_070643
Natural varianti190 – 1901R → S.
VAR_009398
Natural varianti191 – 1911L → H in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
VAR_009399
Natural varianti198 – 1992NF → I in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling. 1 Publication
VAR_009400
Natural varianti204 – 2041R → P Found in a patient suspected of having tuberous sclerosis; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
VAR_070644
Natural varianti206 – 2061H → D in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2. 1 Publication
VAR_054389
Natural varianti216 – 2161F → L in a bladder tumor; diffuse punctate cytoplasmic distribution in aminoacid-starved conditions; does not affect interaction with TSC2. 1 Publication
VAR_054390
Natural varianti224 – 2241M → R in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
VAR_009401
Natural varianti246 – 2461R → K in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070645
Natural varianti305 – 3051G → R in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070646
Natural varianti305 – 3051G → W in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070647
Natural varianti322 – 3221M → T.5 Publications
Corresponds to variant rs1073123 [ dbSNP | Ensembl ].
VAR_009402
Natural varianti336 – 3361R → Q in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070648
Natural varianti362 – 3621P → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070649
Natural varianti411 – 4111L → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070650
Natural varianti417 – 4171T → I in TSC1; unknown pathological significance; does not affect interaction with TSC2. 3 Publications
Corresponds to variant rs77464996 [ dbSNP | Ensembl ].
VAR_009403
Natural varianti448 – 4481P → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070651
Natural varianti500 – 5001R → Q in TSC1. 1 Publication
VAR_054391
Natural varianti509 – 5091R → Q Rare polymorphism; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070652
Natural varianti523 – 5231A → P in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070653
Natural varianti567 – 5671A → V in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070654
Natural varianti577 – 5771E → D.1 Publication
VAR_009404
Natural varianti586 – 5894CKIP → S in TSC1.
VAR_009405
Natural varianti587 – 5871K → R.2 Publications
Corresponds to variant rs118203576 [ dbSNP | Ensembl ].
VAR_009406
Natural varianti654 – 6541Q → E in TSC1. 1 Publication
Corresponds to variant rs75820036 [ dbSNP | Ensembl ].
VAR_009407
Natural varianti693 – 6931D → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070655
Natural varianti698 – 6981L → R in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070656
Natural varianti701 – 7011Q → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070657
Natural varianti726 – 7261A → E in TSC1. 1 Publication
VAR_009408
Natural varianti732 – 7321H → Y in FCDBC; unknown pathological significance. 4 Publications
Corresponds to variant rs118203657 [ dbSNP | Ensembl ].
VAR_009409
Natural varianti762 – 7621N → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070658
Natural varianti809 – 8091E → Q.1 Publication
VAR_009410
Natural varianti811 – 8111R → G in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070659
Natural varianti829 – 8291S → R.1 Publication
VAR_009411
Natural varianti883 – 8831A → T in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070660
Natural varianti899 – 8991T → S in TSC1. 1 Publication
VAR_009412
Natural varianti978 – 9781L → V in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070661
Natural varianti1035 – 10351G → S Rare polymorphism; no effect on expression; no effect on inhibition of TORC1 signaling. 3 Publications
Corresponds to variant rs118203742 [ dbSNP | Ensembl ].
VAR_009413
Natural varianti1043 – 10431Missing in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070662
Natural varianti1097 – 10971R → H Rare polymorphism; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070663
Natural varianti1108 – 11081G → S.1 Publication
VAR_009414
Natural varianti1146 – 11461D → Y in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
VAR_070664

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei70 – 12051Missing in isoform 2. 1 PublicationVSP_042890Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF013168 mRNA. Translation: AAC51674.1.
AK303030 mRNA. Translation: BAH13883.1.
AL445645 Genomic DNA. Translation: CAH72112.1.
CH471090 Genomic DNA. Translation: EAW88021.1.
AC002096 Genomic DNA. No translation available.
D87683 mRNA. Translation: BAA13436.1.
AF234185 Genomic DNA. Translation: AAF61948.1.
CCDSiCCDS55350.1. [Q92574-2]
CCDS6956.1. [Q92574-1]
PIRiT03814.
RefSeqiNP_000359.1. NM_000368.4. [Q92574-1]
NP_001155898.1. NM_001162426.1.
NP_001155899.1. NM_001162427.1. [Q92574-2]
XP_005272268.1. XM_005272211.1. [Q92574-1]
XP_006717334.1. XM_006717271.1. [Q92574-1]
UniGeneiHs.370854.

Genome annotation databases

EnsembliENST00000298552; ENSP00000298552; ENSG00000165699. [Q92574-1]
ENST00000440111; ENSP00000394524; ENSG00000165699. [Q92574-1]
ENST00000545250; ENSP00000444017; ENSG00000165699. [Q92574-2]
GeneIDi7248.
KEGGihsa:7248.
UCSCiuc004cca.2. human. [Q92574-1]
uc011mcq.1. human. [Q92574-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Tuberous sclerosis database Tuberous sclerosis 1 (TSC1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF013168 mRNA. Translation: AAC51674.1.
AK303030 mRNA. Translation: BAH13883.1.
AL445645 Genomic DNA. Translation: CAH72112.1.
CH471090 Genomic DNA. Translation: EAW88021.1.
AC002096 Genomic DNA. No translation available.
D87683 mRNA. Translation: BAA13436.1.
AF234185 Genomic DNA. Translation: AAF61948.1.
CCDSiCCDS55350.1. [Q92574-2]
CCDS6956.1. [Q92574-1]
PIRiT03814.
RefSeqiNP_000359.1. NM_000368.4. [Q92574-1]
NP_001155898.1. NM_001162426.1.
NP_001155899.1. NM_001162427.1. [Q92574-2]
XP_005272268.1. XM_005272211.1. [Q92574-1]
XP_006717334.1. XM_006717271.1. [Q92574-1]
UniGeneiHs.370854.

3D structure databases

ProteinModelPortaliQ92574.
SMRiQ92574. Positions 85-263.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113099. 39 interactions.
IntActiQ92574. 40 interactions.
MINTiMINT-1534928.
STRINGi9606.ENSP00000298552.

PTM databases

PhosphoSiteiQ92574.

Polymorphism and mutation databases

BioMutaiTSC1.
DMDMi9297077.

Proteomic databases

PaxDbiQ92574.
PRIDEiQ92574.

Protocols and materials databases

DNASUi7248.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298552; ENSP00000298552; ENSG00000165699. [Q92574-1]
ENST00000440111; ENSP00000394524; ENSG00000165699. [Q92574-1]
ENST00000545250; ENSP00000444017; ENSG00000165699. [Q92574-2]
GeneIDi7248.
KEGGihsa:7248.
UCSCiuc004cca.2. human. [Q92574-1]
uc011mcq.1. human. [Q92574-2]

Organism-specific databases

CTDi7248.
GeneCardsiGC09M135766.
GeneReviewsiTSC1.
HGNCiHGNC:12362. TSC1.
HPAiCAB011568.
CAB012481.
HPA048549.
MIMi191100. phenotype.
605284. gene.
607341. phenotype.
neXtProtiNX_Q92574.
Orphaneti269008. Isolated focal cortical dysplasia type IIb.
538. Lymphangioleiomyomatosis.
805. Tuberous sclerosis.
PharmGKBiPA37034.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG68098.
GeneTreeiENSGT00390000014148.
HOGENOMiHOG000232119.
HOVERGENiHBG012559.
InParanoidiQ92574.
KOiK07206.
OMAiEHNAAMK.
OrthoDBiEOG7NKKJH.
PhylomeDBiQ92574.
TreeFamiTF325466.

Enzyme and pathway databases

ReactomeiREACT_21393. Regulation of Rheb GTPase activity by AMPK.
REACT_355377. TP53 Regulates Metabolic Genes.
REACT_6743. Inhibition of TSC complex formation by PKB.
SignaLinkiQ92574.

Miscellaneous databases

ChiTaRSiTSC1. human.
GeneWikiiTSC1.
GenomeRNAii7248.
NextBioi28341.
PROiQ92574.
SOURCEiSearch...

Gene expression databases

BgeeiQ92574.
CleanExiHS_TSC1.
ExpressionAtlasiQ92574. baseline and differential.
GenevisibleiQ92574. HS.

Family and domain databases

InterProiIPR007483. Hamartin.
[Graphical view]
PANTHERiPTHR15154. PTHR15154. 1 hit.
PfamiPF04388. Hamartin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-587.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain."
    Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N.
    DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 466-1164 (ISOFORM 1/2).
    Tissue: Bone marrow.
  6. "A silent mutation 1947 T-->C in exon 15 of TSC1 in Chinese."
    Fang L., Wang N., Murong S.X., Wu Z.Y., Lin M.T.
    Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 568-586.
  7. "Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles."
    Plank T.L., Yeung R.S., Henske E.P.
    Cancer Res. 58:4766-4770(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH TSC2.
  8. Cited for: INTERACTION WITH TSC2.
  9. "Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin."
    Nellist M., van Slegtenhorst M.A., Goedbloed M., van den Ouweland A.M.W., Halley D.J.J., van der Sluijs P.
    J. Biol. Chem. 274:35647-35652(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TSC2.
  10. "Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling."
    Tee A.R., Fingar D.C., Manning B.D., Kwiatkowski D.J., Cantley L.C., Blenis J.
    Proc. Natl. Acad. Sci. U.S.A. 99:13571-13576(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  11. "Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity."
    Li Y., Inoki K., Guan K.-L.
    Mol. Cell. Biol. 24:7965-7975(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  12. Cited for: PHOSPHORYLATION AT SER-505, IDENTIFICATION BY MASS SPECTROMETRY, INTERACTION WITH DOCK7 AND TSC2.
  13. "TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase."
    Chong-Kopera H., Inoki K., Li Y., Zhu T., Garcia-Gonzalo F.R., Rosa J.L., Guan K.-L.
    J. Biol. Chem. 281:8313-8316(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TSC2.
  14. "Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex."
    Nakashima A., Yoshino K., Miyamoto T., Eguchi S., Oshiro N., Kikkawa U., Yonezawa K.
    Biochem. Biophys. Res. Commun. 361:218-223(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TBC1D7.
  15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  16. "WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase."
    Hu J., Zacharek S., He Y.J., Lee H., Shumway S., Duronio R.J., Xiong Y.
    Genes Dev. 22:866-871(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FBXW5.
  17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Platelet.
  18. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-505; SER-511 AND SER-598, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  19. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  20. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-505, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  21. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  22. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1100, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  23. "Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis."
    Jones A.C., Daniells C.E., Snell R.G., Tachataki M., Idziaszczyk S.A., Krawczak M., Sampson J.R., Cheadle J.P.
    Hum. Mol. Genet. 6:2155-2161(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TSC1 GLU-726, VARIANTS THR-322; TYR-732 AND SER-1035.
    Tissue: Peripheral blood.
  24. "Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance."
    Kwiatkowska J., Jozwiak S., Hall F., Henske E.P., Haines J.L., McNamara P., Braiser J., Wigowska-Sowinska J., Kasprzyk-Obara J., Short M.P., Kwiatkowski D.J.
    Ann. Hum. Genet. 62:277-285(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS THR-322; ARG-587; TYR-732; SER-1035 AND SER-1108.
    Tissue: Blood.
  25. "Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations."
    Benit P., Kara-Mostefa A., Hadj-Rabia S., Munnich A., Bonnefont J.-P.
    Hum. Mutat. 14:428-432(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TSC1 PRO-72.
  26. "Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis."
    Niida Y., Lawrence-Smith N., Banwell A., Hammer E., Lewis J., Beauchamp R.L., Sims K., Ramesh V., Ozelius L.
    Hum. Mutat. 14:412-422(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS THR-322; TYR-732 AND GLN-809.
    Tissue: Blood and Lymphoblast.
  27. "Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex."
    Zhang H., Nanba E., Yamamoto T., Ninomiya H., Ohno K., Mizuguchi M., Takeshita K.
    J. Hum. Genet. 44:391-396(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TSC1 ILE-417; GLU-654 AND SER-899, VARIANT THR-322.
    Tissue: Blood.
  28. "Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation."
    Van Slegtenhorst M.A., Verhoef S., Tempelaars A., Bakker L., Wang Q., Wessels M., Bakker R., Nellist M., Lindhout D., Halley D.J.J., van den Ouweland A.M.W.
    J. Med. Genet. 36:285-289(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TSC1, VARIANTS.
    Tissue: Peripheral blood.
  29. "Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations."
    Yamashita Y., Ono J., Okada S., Wataya-Kaneda M., Yoshikawa K., Nishizawa M., Hirayama Y., Kobayashi E., Seyama K., Hino O.
    Am. J. Med. Genet. 90:123-126(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS THR-322; ILE-417; ASP-577 AND ARG-829.
    Tissue: Peripheral blood leukocyte.
  30. "Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE."
    Hass J., Mayer K., Rott H.-D.
    Hum. Mutat. 16:88-88(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TSC1 GLN-500.
  31. "Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis."
    Becker A.J., Urbach H., Scheffler B., Baden T., Normann S., Lahl R., Pannek H.W., Tuxhorn I., Elger C.E., Schramm J., Wiestler O.D., Bluemcke I.
    Ann. Neurol. 52:29-37(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FCDBC TYR-732.
  32. "Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms."
    Pymar L.S., Platt F.M., Askham J.M., Morrison E.E., Knowles M.A.
    Hum. Mol. Genet. 17:2006-2017(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARG-68; CYS-158; ASP-206; LEU-216 AND ILE-417, CHARACTERIZATION OF VARIANTS ARG-68; CYS-158; ASP-206; LEU-216 AND ILE-417.
  33. Cited for: VARIANTS TSC1 PRO-117; VAL-128 DEL; PRO-180; HIS-191; 198-ASN-PHE-199 DELINS ILE; ARG-224; LYS-246; ARG-305 AND TRP-305, VARIANTS GLN-509; SER-1035 AND HIS-1097, CHARACTERIZATION OF VARIANTS TSC1 PRO-117; VAL-128 DEL; PRO-180; HIS-191; 198-ASN-PHE-199 DELINS ILE; ARG-224; LYS-246; ARG-305 AND TRP-305, CHARACTERIZATION OF VARIANTS GLN-509; SER-1035 AND HIS-1097.
  34. Cited for: VARIANTS TSC1 ARG-61; ILE-126; ASP-132; ILE-133; GLN-336; SER-362; ILE-411; SER-448; PRO-523; VAL-567; HIS-693; ARG-698; HIS-701; SER-762; GLY-811; THR-883; VAL-978; SER-1043 DEL AND TYR-1146, VARIANTS SER-158 AND PRO-204, CHARACTERIZATION OF VARIANTS TSC1 ARG-61; PRO-117; ILE-126; ASP-132; ILE-133; GLN-336; SER-362; ILE-411; SER-448; PRO-523; VAL-567; HIS-693; ARG-698; HIS-701; SER-762; GLY-811; THR-883; VAL-978; SER-1043 DEL AND TYR-1146, CHARACTERIZATION OF VARIANTS SER-158 AND PRO-204.

Entry informationi

Entry nameiTSC1_HUMAN
AccessioniPrimary (citable) accession number: Q92574
Secondary accession number(s): B7Z897, Q5VVN5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1998
Last modified: June 24, 2015
This is version 151 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.